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1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
14 signs/symptoms
X-linked intellectual deficit, Golabi-Ito-Hall type
Complete androgen insensitivity syndrome

PQBP1 AR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PQBP1
(0.49)
AR



Citations in the biomedical literature:


X-linked intellectual deficit, Golabi-Ito-Hall type
PQBP1
Complete androgen insensitivity syndrome
AR



X-linked intellectual deficit, Golabi-Ito-Hall type
Complete androgen insensitivity syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CAIS
- Complete androgen resistance syndrome

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

X-linked intellectual deficit, Golabi-Ito-Hall type
Complete androgen insensitivity syndrome

Very frequent
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Microcephaly
- Narrow face
- Short stature / dwarfism / nanism
- Triangular face
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- X-linked recessive inheritance

Frequent
- Atrial septal defect / interauricular communication
- Brittle hair / distrix / trichorrhexis
- Epicanthic folds
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness

Occasional
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Decreased body hair / axillar / pubic hairlessness
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Sensitive trouble / deficit
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Tremor